Canonical Allele Identifier: CA355025049
Gene: P2RY1 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.152836295C>G
GRCh37 chr3:g.152554084C>G
Revel Score:
ENST00000305097 (MANE Select) 0.080
gnomAD v2:
3:152554084 C / G
gnomAD v3:
3:152836295 C / G
gnomAD v4:
chr3-152836295-C-G
Joint Max Group AF 0.00000183 (NFE)
Exomes Max Group AF 0.00000132 (NFE)
ClinVar RCV:
RCV004139543
ClinVar Variation:
2289537
dbSNP:
1232204166
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.152836295C>G , CM000665.2:g.152836295C>G GRCh38
NC_000003.11:g.152554084C>G , CM000665.1:g.152554084C>G GRCh37
NC_000003.10:g.154036774C>G NCBI36
NG_032896.2:g.6349C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000305097.6:c.513C>G MANE Select ENSP00000304767.3:p.Ile171Met
ENST00000305097.5:c.513C>G ENSP00000304767.3:p.Ile171Met
NM_002563.3:c.513C>G NP_002554.1:p.Ile171Met
NM_002563.4:c.513C>G NP_002554.1:p.Ile171Met
NM_002563.5:c.513C>G MANE Select NP_002554.1:p.Ile171Met
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